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Fuchs, H. ; Sabrautzki, S. ; Przemeck, G.K.H. ; Leuchtenberger, S. ; Lorenz-Depiereux, B. ; Becker, L. ; Rathkolb, B. ; Horsch, M. ; Garrett, L. ; Östereicher, M.A. ; Hans, W. ; Abe, K.* ; Sagawa, N.* ; Rozman, J. ; Vargas Panesso, I.L. ; Sandholzer, M. ; Lisse, T.S. ; Adler, T. ; Aguilar-Pimentel, J.A. ; Calzada-Wack, J. ; Ehrhard, N. ; Elvert, R. ; Gau, C. ; Hölter, S.M. ; Micklich, K. ; Moreth, K. ; Prehn, C. ; Puk, O. ; Rácz, I.* ; Stoeger, C. ; Vernaleken, A. ; Michel, D. ; Diener, S. ; Wieland, T. ; Adamski, J. ; Bekeredjian, R.* ; Lengger, C. ; Maier, H. ; Neff, F. ; Ollert, M.* ; Stöger, T. ; Yildirim, A.Ö. ; Strom, T.M. ; Zimmer, A.* ; Wolf, E.* ; Wurst, W. ; Klopstock, T.* ; Beckers, J. ; Gailus-Durner, V. ; Hrabě de Angelis, M.

The first Scube3 mutant mouse line with pleiotropic phenotypic alterations.

Genes Genomes Genetics G3 6, 4035-4046 (2016)
Publ. Version/Full Text Postprint Research data DOI
Open Access Gold
Creative Commons Lizenzvertrag
The vertebrate Scube (Signal peptide, CUB and EGF-like domain-containing protein) family consists of three independent members Scube1-3, which encode secreted cell surface-associated membrane glycoproteins. Limited information about the general function of this gene family is available, and their roles during adulthood. Here, we present the first Scube3 mutant mouse line (Scube3N294K/N294K) that clearly shows phenotypic alterations by carrying a missense mutation in exon 8, and thus contributes to understand SCUBE3 functions. We performed a detailed phenotypic characterization in the German Mouse Clinic (GMC). Scube3N294K/N294K mutants showed morphological abnormalities of the skeleton, alterations of parameters relevant for bone metabolism, changes in renal function and hearing impairments. These findings correlate with characteristics of the rare metabolic bone disorder Paget disease of bone (PDB), associated with the chromosomal region of human SCUBE3. In addition, alterations in energy metabolism, behavior and neurological functions were detected in Scube3N294K/N294K mice. The Scube3N294K/N294K mutant mouse line may serve as a new model for further studying the effect of impaired SCUBE3 gene function.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords SCUBE3; Paget disease of bone (PDB); mouse model; pleiotropy; systemic phenotype; Epithelial-mesenchymal Transition; Genome-wide Association; Pagets-disease; Calcium-metabolism; Marfan-syndrome; Kidney Injury; Lung-cancer; Rat-kidney; Cub Domain; Expression
ISSN (print) / ISBN 2160-1836
e-ISSN 2160-1836
Journal Genes Genomes Genetics G3
Quellenangaben Volume: 6, Issue: 12, Pages: 4035-4046 Article Number: , Supplement: ,
Publisher Genetics Society of America
Publishing Place Pittsburgh, PA
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Experimental Genetics (IEG)
Institute of Human Genetics (IHG)
Institute of Developmental Genetics (IDG)
Institute of Pathology (PATH)
Molekulare Endokrinologie und Metabolismus (MEM)
Lung Health and Immunity (LHI)
Institute of Lung Biology (LHI)
CF Comparative Medicine (CF-Comparative Medicine)